Shwachman-Diamond Syndrome Alliance

Matched Genetic Counseling Student:

Originally from Vancouver, BC, Anna J Prentice is a 2022 graduate of the University of Toronto in molecular genetics and English. While completing her undergraduate degree, she worked in a comparative genomics lab researching heart development. During this project, she was involved in a collaboration with the SickKids Cardiac Genome Clinic—a team including research genetic counselors—with the goal to identify conserved enhancers impacting congenital heart disease. In the future, Anna hopes to integrate her passion for research into her work as a genetic counselor. In her free time, Anna also enjoys baking, hiking, and musical theatre.

Student Initiatives:

During this project, Anna proposed to complete an informational video discussing the genetics of Shwachman-Diamond syndrome (SDS) for families with new diagnoses. She also worked on a one-pager for distribution to physicians encouraging genetic testing for SDS. These projects are still in progress, but she is excited to see them in their final form.

Proposed SDS Alliance projects:

Develop a curriculum to teach patients about genetics and how research works and how they can participate (video or website content);Develop a questionnaire for our patients to find out whether increased knowledge regarding genetics helps them cope better. Create marketing materials to develop a sponsored genetic testing program, and/or panel and promote it including interpretation support for physicians; Develop a one-pager to distribute to the medical community highlighting the importance of genetic testing for patients with certain symptoms/characteristics.